Canonical Allele Identifier: CA381567406

Gene: NDUFS8

Linked Data

• dbSNP Id: rs1854808964
• gnomAD v3: 11-68033264-A-T
• gnomAD v4: 11-68033264-A-T
• MyVariant Identifiers: chr11:g.67800731A>T (hg19) ; chr11:g.68033264A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033264A>T , CM000673.2:g.68033264A>T	GRCh38
NC_000011.9:g.67800731A>T , CM000673.1:g.67800731A>T	GRCh37
NC_000011.8:g.67557307A>T	NCBI36
NG_017040.1:g.7648A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.353A>T MANE Select	ENSP00000315774.5:p.Glu118Val
ENST00000313468.9:c.353A>T	ENSP00000315774.5:p.Glu118Val
ENST00000432321.6:n.470A>T
ENST00000453471.6:c.353A>T	ENSP00000403972.2:p.Glu118Val
ENST00000524810.5:c.124A>T
ENST00000525419.5:c.299A>T	ENSP00000433521.1:p.Glu100Val
ENST00000526339.5:c.353A>T	ENSP00000436287.1:p.Glu118Val
ENST00000526446.5:c.*408A>T	ENSP00000433645.1:n.*408A>T
ENST00000528492.1:c.-67+2531A>T	ENSP00000432848.1:n.-67+2531A>T
ENST00000529645.1:c.531A>T	ENSP00000431293.1:n.531A>T
ENST00000532399.1:n.1058A>T
NM_002496.3:c.353A>T	NP_002487.1:p.Glu118Val
XM_005274013.1:c.353A>T	XP_005274070.1:p.Glu118Val
XM_005274014.1:c.353A>T	XP_005274071.1:p.Glu118Val
XM_005274015.1:c.233A>T	XP_005274072.1:p.Glu78Val
XM_011545053.1:c.353A>T	XP_011543355.1:p.Glu118Val
NM_002496.4:c.353A>T MANE Select	NP_002487.1:p.Glu118Val